A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462935



Internal ID15176314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44078406..44149870hg38UCSC Ensembl
Innerchr6:44046143..44117607hg19UCSC Ensembl
Innerchr6:44154121..44225585hg18UCSC Ensembl
Innerchr6:44154121..44225585hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3871465
hg1971465
hg1871465
hg1771465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538990
SamplesNINDS_259
Known GenesMRPL14, TMEM63B
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462935
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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